Canonical Allele Identifier: CA379924181
Community Standard Title: NM_213599.3(ANO5):c.2286C>G (p.Tyr762Ter)
Gene: ANO5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22274619C>G , CM000673.2:g.22274619C>G GRCh38
NC_000011.9:g.22296165C>G , CM000673.1:g.22296165C>G GRCh37
NC_000011.8:g.22252741C>G NCBI36
NG_015844.1:g.86444C>G , LRG_868:g.86444C>G

Transcript Alleles

HGVS Amino-acid Change
NM_213599.3:c.2286C>G MANE Select NP_998764.1:p.Tyr762Ter
ENST00000324559.9:c.2286C>G MANE Select ENSP00000315371.9:p.Tyr762Ter
NM_001142649.1:c.2283C>G NP_001136121.1:p.Tyr761Ter
NM_001142649.2:c.2283C>G NP_001136121.1:p.Tyr761Ter
NM_213599.2:c.2286C>G , LRG_868t1:c.2286C>G NP_998764.1:p.Tyr762Ter
ENST00000324559.8:c.2286C>G ENSP00000315371.8:p.Tyr762Ter
ENST00000532043.1:n.303C>G
ENST00000532043.2:n.303C>G
ENST00000648804.1:n.2621C>G
ENST00000682266.1:c.1836C>G ENSP00000507766.1:p.Tyr612Ter
ENST00000682341.1:c.2244C>G ENSP00000508251.1:p.Tyr748Ter
ENST00000683197.1:c.2244C>G ENSP00000507641.1:p.Tyr748Ter
ENST00000683411.1:c.1836C>G ENSP00000508397.1:p.Tyr612Ter
ENST00000683437.1:c.1836C>G ENSP00000508408.1:p.Tyr612Ter
ENST00000683613.1:n.3280C>G
ENST00000684663.1:c.2241C>G ENSP00000508009.1:p.Tyr747Ter
XM_005252820.2:c.2244C>G XP_005252877.2:p.Tyr748Ter
XM_005252820.3:c.2244C>G XP_005252877.2:p.Tyr748Ter
XM_005252821.2:c.2241C>G XP_005252878.2:p.Tyr747Ter
XM_005252821.3:c.2241C>G XP_005252878.2:p.Tyr747Ter
XM_005252822.3:c.2208C>G XP_005252879.1:p.Tyr736Ter
XM_005252822.4:c.2208C>G XP_005252879.1:p.Tyr736Ter
XM_005252823.3:c.2205C>G XP_005252880.1:p.Tyr735Ter
XM_011519949.1:c.2193C>G XP_011518251.1:p.Tyr731Ter
XM_011519949.2:c.2193C>G XP_011518251.1:p.Tyr731Ter